P8T (p.Pro8Thr) variant of BMPR2 (Q13873)
P8T (p.Pro8Thr) in BMPR2 (Q13873) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- gnomAD 2-202377496-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.15
- CADD 18.00
- PolyPhen-2 0.03
- SIFT 0.51
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available